Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

Kritharis, Athena; Al‐Samkari, Hanny

doi:10.3324/haematol.2018.193003

Cited by 165 publications

(153 citation statements)

References 79 publications

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“…We believe that pregnancy is also a potential risk factor for spontaneous rupture of PAVMs, as previous studies have described [6; 20]. Although the probability of spontaneous rupture of PAVMs is low, we strongly recommend that PAVM rupture must be considered when managing patients with hemothorax or hemoptysis, especially female patients with a clear family history of HHT [31][32][33].…”

Section: Discussionmentioning

confidence: 62%

Diagnosis and Transvascular Embolization for Ruptured Pulmonary Arteriovenous Malformations: Outcomes from a 12 Years’ Retrospective Study

Jie

et al. 2020

Preprint

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Background Pulmonary arteriovenous malformations (PAVMs) are rare, and the life-threatening hemorrhagic complications, including hemoptysis and hemothorax, are extremely uncommon. However, the management of large series of ruptured PAVMs has not been described in recent years. Methods We retrospectively reviewed patients who developed ruptured PAVMs between January 2008 and December 2019. We assessed the clinical and imaging data to summarize the incidence and characteristics of ruptured PAVMs, and outcomes following embolization with coils or plugs. A paired-sample t-test analysis, Kaplan–Meier method and the simple linear regression were accessed, as appropriate.Results Eighteen (5.49%) of 328 patients diagnosed with PAVMs developed hemorrhagic complications. Twelve of these 18 patients were clinically diagnosed with hereditary hemorrhagic telangiectasia (HHT) (incidence, 66.67%). Eleven of 18 patients were female. Eight of the 11 females were diagnosed with HHT. Twenty-eight lesions were detected, and the simple type was more common (82.14%) than the complex type. 89.29% of lesions were located in the peripheral lung. Computed tomography angiography (CTA) showed indirect signs to predict the ruptured PAVMs in cases of hemothorax. Technical success of embolotherapy was achieved in all cases. Two days after treatment, pulmonary function was significantly improved and bleeding was controlled (P<0.05), and no patients showed recanalization of PAVMs. Two patients in the hemoptysis group died of other reasons during follow-up and the mean follow-up time was 3.22±2.52 years (range, 7 months to 10 years). The hemorrhage volume was linearly associated with the diameter of the afferent arteries in the ruptured lesions.Conclusions CTA was able to diagnose ruptured PAVMs, and embolotherapy led to successful resolution of symptoms in all 18 patients who had ruptured PAVMs. Ruptured PAVMs must be considered when managing patients with hemothorax or hemoptysis, especially female patients with HHT.

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Section: Discussionmentioning

confidence: 62%

Diagnosis and Transvascular Embolization for Ruptured Pulmonary Arteriovenous Malformations: Outcomes from a 12 Years’ Retrospective Study

Jie

et al. 2020

Preprint

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“…and pazopanib, sorafenib, tacrolimus and thalidomide may have a therapeutic role in reducing HHT-related bleeding (38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48) . So, asking the patients if they ever received a transfusion because of nosebleeds without investigating the use of treatment that interferes with the need for transfusion may be confounding.…”

Section: Discussionmentioning

confidence: 99%

FID Score: an effective tool in Hereditary Haemorrhagic Telangiectasia - related epistaxis

Pagella¹,

Maiorano²,

Matti³

et al. 2020

Rhin

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Background: Hereditary haemorrhagic telangiectasia (HHT) is a rare disease characterized by a multisystemic vascular dysplasia and epistaxis, that is the most common cause of disability and social impairment. Patient management strictly depends on the severity of this symptom; therefore, it is of paramount importance for the clinicians to effectively grade epistaxis severity. The aim of this report was to validate the Frequency, Intensity and Duration score (FID) for grading epistaxis severity in patients with HHT; we studied repeatability and external validity comparing FID score with Epistaxis Severity Score (ESS). Methods: This is a descriptive, observational study that included 264 adult HHT patients with epistaxis. Diagnosis of HHT was established with Curaçao criteria or positivity at genetic testing. Nosebleed severity was evaluated according to the FID score and the ESS. The first 30 patients were included in the validation of the FID score, which was graded on days 0, 1, 3 and 7. In the remaining 234 patients, a comparison between the ESS and FID score was performed. Results: The statistical analysis performed in order to validate the FID score showed very good agreement between scores calculated on different days; analysis comparing the FID score with the ESS revealed a high correlation between the two grading systems. Conclusions: The FID score is a quick, easy and precise tool for evaluating HHT-related epistaxis and could be a possible alternative to the ESS. The FID score meets the need for an intuitive and smart grading system that is easy to manage in clinicians' hands.

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“…Symptoms from liver involvement are often misdiagnosed and early identification and treatment in these patients is life-saving. The Curacao criteria are used to diagnose HHT which include three of the following features: recurrent and spontaneous epistaxis, mucocutaneous telangiectasias, visceral involvement, and family history or first-degree relative with HHT [5]. Portosystemic encephalopathy is an extremely rare manifestation of HHT.…”

Section: Discussionmentioning

confidence: 99%

Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient With Hereditary Hemorrhagic Telangiectasia

Shah

Makar

Akhtar

et al. 2018

American Journal of Gastroenterology

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Hereditary hemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant disorder characterized by telangiectasias and arteriovenous malformations. Multiple organ systems are involved including the skin, lungs, gastrointestinal tract, and brain. Hepatic encephalopathy is an extremely rare complication of HHT and early diagnosis and treatment can be life-saving. We present a rare case of hepatic encephalopathy caused by HHT-induced portosystemic shunting treated with lactulose.

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Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

Cited by 165 publications

References 79 publications

Diagnosis and Transvascular Embolization for Ruptured Pulmonary Arteriovenous Malformations: Outcomes from a 12 Years’ Retrospective Study

Diagnosis and Transvascular Embolization for Ruptured Pulmonary Arteriovenous Malformations: Outcomes from a 12 Years’ Retrospective Study

FID Score: an effective tool in Hereditary Haemorrhagic Telangiectasia - related epistaxis

Lactulose to the Rescue: A Case of Toxic Hepatic Encephalopathy Caused by Portosystemic Shunting and Epistaxis in a Patient With Hereditary Hemorrhagic Telangiectasia

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